Varaico: Literature-Extracted Genetic Variants

SLC25A11

52 papers

RefSeq Summary

The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., ...

Pfam Domains

Mito_carraa 18–112UCSCMitochondrial carrier protein

Mito_carraa 115–213UCSCMitochondrial carrier protein

Mito_carraa 215–310UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 11

HGNC Previous Symbol

SLC20A4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 92 variants

2 papers

NM_003562.5

p.A123D

c.368C>A

2 papers

NM_003562.5

p.P239T

c.715C>A

1 paper

NM_003562.5

p.M1insFs

c.1dupA

1 paper

NM_003562.5

p.G8W

c.22G>T

1 paper

NM_003562.5

p.G10R

c.28G>C

1 paper

NM_003562.5

p.G10A

c.29G>C

1 paper

NM_003562.5

p.G11A

c.32G>C

1 paper

NM_003562.5

p.G11E

c.32G>A

1 paper

NM_003562.5

p.F27L

c.79T>C

1 paper

NM_003562.5

p.F27C

c.80T>G

1 paper

NM_003562.5

p.F27L

c.81T>G

1 paper

NM_003562.5

p.F27L

c.81T>A